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Best Female Scientists
2025

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Best Female Scientists

D-Index
119
Citations
67135
World Ranking
573
National Ranking
344

Genetics

D-Index
119
Citations
68467
World Ranking
387
National Ranking
197

Medicine

D-Index
119
Citations
68927
World Ranking
3831
National Ranking
2096

Research.com Recognitions

  • 2025 - Research.com Best Female Scientists Award
  • 2004 - Gruber Prize in Genetics

Overview

Mary Claire King is affiliated with the University of Washington in the United States and conducts research primarily in the domains of biochemistry, genetics, and molecular biology, with related work in medicine. Their scholarly output includes significant focus on genetics and molecular biology, as well as sensory systems, oncology, and cancer research.

The scientist's body of work covers several topics, notably:

  • BRCA gene mutations in cancer
  • Genomics and rare diseases
  • Hearing, cochlea, tinnitus, genetics
  • Genomic variations and chromosomal abnormalities
  • Cancer genomics and diagnostics
  • Ear surgery and otitis media
  • DNA repair mechanisms

Recent publications illustrate the breadth of their research interests and include the following papers:

  • "Targeted long-read sequencing identifies missing disease-causing variation," 2021, The American Journal of Human Genetics
  • "Genetics of schizophrenia in the South African Xhosa," 2020, Science
  • "Germline variants drive myelodysplastic syndrome in young adults," 2021, Leukemia
  • "Genomic analysis of inherited hearing loss in the Palestinian population," 2020, Proceedings of the National Academy of Sciences
  • "Systematic misclassification of missense variants in BRCA1 and BRCA2 'coldspots'," 2020, Genetics in Medicine

The frequent co-authors in their work demonstrate ongoing collaborative efforts in related areas and include:

  • Tom Walsh
  • Süleyman Gülsüner
  • Jon McClellan
  • Amal Abu Rayyan
  • Ming K. Lee

Publishing venues where Mary Claire King has appeared frequently include:

  • Biological Psychiatry
  • Journal of Medical Genetics
  • The American Journal of Human Genetics
  • Proceedings of the National Academy of Sciences
  • Neuron

Among the honors received, Mary Claire King has been awarded the Gruber Prize in Genetics in 2004.

Best Publications

  • Evolution at two levels in humans and chimpanzees

    Mary Claire King;A. C. Wilson

  • Linkage of early-onset familial breast cancer to chromosome 17q21

    Jeff M. Hall;Ming K. Lee;Beth Newman;Jan E. Morrow

  • Strong Association of De Novo Copy Number Mutations with Autism

    Jonathan Sebat;B. Lakshmi;Dheeraj Malhotra;Jennifer Troge

  • Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2.

    Mary-Claire King;Joan H. Marks;Jessica B. Mandell

  • Initial sequence of the chimpanzee genome and comparison with the human genome

    Tarjei S. Mikkelsen;LaDeana W. Hillier

  • Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

    Tom Walsh;Jon M. McClellan;Shane E. McCarthy;Anjené M. Addington

  • Atherogenic lipoprotein phenotype. A proposed genetic marker for coronary heart disease risk.

    Melissa A. Austin;Mary Claire King;Karen M. Vranizan;Ronald M. Krauss

  • Genetic heterogeneity in human disease.

    Jon McClellan;Mary Claire King

  • Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing

    Tom Walsh;Silvia Casadei;Ming K. Lee;Christopher C. Pennil

  • Germline and Somatic Mutations in Homologous Recombination Genes Predict Platinum Response and Survival in Ovarian, Fallopian Tube, and Peritoneal Carcinomas

    Kathryn P. Pennington;Tom Walsh;Maria I. Harrell;Ming K. Lee

  • Breast-Cancer Risk in Families with Mutations in PALB2

    A. C. Antoniou;S. Casadei;T. Heikkinen;D. Barrowdale

  • Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer.

    Tom Walsh;Silvia Casadei;Kathryn Hale Coats;Elizabeth Swisher

  • BRCA1 and BRCA2 and the genetics of breast and ovarian cancer

    Piri L. Welcsh;Mary-Claire King

  • Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

    Heather C Mefford;Andrew J Sharp;Carl Baker;Andy Itsara

  • Microduplications of 16p11.2 are Associated with Schizophrenia

    Shane E. McCarthy;Vladimir Makarov;George Kirov;Anjene M. Addington

  • Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families

    Lori S. Friedman;Elizabeth A. Ostermeyer;Csilla I. Szabo;Patrick Dowd

  • Concordance for type 2 (non-insulin-dependent) diabetes mellitus in male twins.

    B. Newman;J. V. Selby;M. C. King;C. Slemenda

  • Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial.

    Mary Claire King;Sam Wieand;Kathryn Hale;Ming Lee

  • Inherited Mutations in Women With Ovarian Carcinoma

    Barbara M. Norquist;Maria I. Harrell;Mark F. Brady;Tom Walsh

  • Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families.

    Beth Newman;Melissa A. Austin;Ming Lee;Mary-Claire King

Frequent Co-Authors

Tom Walsh
Tom Walsh University of Washington
Ming K. Lee
Ming K. Lee University of Washington
Elizabeth M. Swisher
Elizabeth M. Swisher University of Washington
Thomas J. Walsh
Thomas J. Walsh Weill Cornell Medicine
Colin C. Pritchard
Colin C. Pritchard University of Washington
Karen B. Avraham
Karen B. Avraham Tel Aviv University
Akiko Shimamura
Akiko Shimamura Harvard University
Rachel E. Klevit
Rachel E. Klevit University of Washington
Jonathan Sebat
Jonathan Sebat University of California, San Diego

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